GJD3

GJD3
Identifiers
Aliases	GJD3, CX31.9, Cx30.2, GJA11, GJC1, gap junction protein delta 3
External IDs	OMIM: 607425; MGI: 2384150; HomoloGene: 17530; GeneCards: GJD3; OMA:GJD3 - orthologs
Gene location (Human) Chr. Chromosome 17 (human) Band 17q21.2 Start 40,360,652 bp End 40,364,737 bp
Gene location (Mouse) Chr. Chromosome 11 (mouse) Band 11|11 D Start 98,873,006 bp End 98,873,842 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gonad apex of heart spleen mucosa of ileum stromal cell of endometrium left ventricle right lung gallbladder mucosa of transverse colon smooth muscle tissue Top expressed in spermatocyte embryo spermatid embryo primary visual cortex testicle Cortex of frontal lobe superior frontal gyrus neural tube striatum of neuraxis More reference expression data BioGPS n/a
Gene ontology Molecular function ion channel activity gap junction channel activity protein binding gap junction channel activity involved in cardiac conduction electrical coupling Cellular component integral component of membrane gap junction cell surface cell junction plasma membrane integral component of plasma membrane connexin complex membrane Biological process gap junction assembly cell communication ion transmembrane transport response to glucose transmembrane transport cell communication involved in cardiac conduction cell communication by electrical coupling involved in cardiac conduction Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 125111 353155 Ensembl ENSG00000183153 ENSMUSG00000047197 UniProt Q8N144 Q91YD1 RefSeq (mRNA) NM_152219 NM_178596 RefSeq (protein) NP_689343 NP_848711 Location (UCSC) Chr 17: 40.36 – 40.36 Mb Chr 11: 98.87 – 98.87 Mb PubMed search
Wikidata
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Gap junction delta-2 (GJD2), also known as connexin-36 (Cx36) or gap junction alpha-9 (GJA9), is a protein that in humans is encoded by the GJD2 gene.

Function

This gene is a member of the large family of connexins that are required for the formation of gap junctions. Six connexin monomers form a hemichannel, or connexon, on the cell surface. This connexon can interact with a connexon from a neighboring cell, thus forming a channel linking the cytoplasm of the 2 cells.

Further reading

• White TW, Srinivas M, Ripps H, et al. (2002). "Virtual cloning, functional expression, and gating analysis of human connexin31.9". Am. J. Physiol., Cell Physiol. 283 (3): C960–70. doi:10.1152/ajpcell.00163.2002. PMID 12176752.
• Gemel J, Lin X, Collins R, et al. (2008). "Cx30.2 can form heteromeric gap junction channels with other cardiac connexins". Biochem. Biophys. Res. Commun. 369 (2): 388–94. doi:10.1016/j.bbrc.2008.02.040. PMC 2323682. PMID 18291099.
• Belluardo N, White TW, Srinivas M, et al. (2001). "Identification and functional expression of HCx31.9, a novel gap junction gene". Cell Commun. Adhes. 8 (4–6): 173–8. doi:10.3109/15419060109080719. PMID 12064584. S2CID 13136344.
• Bukauskas FF, Kreuzberg MM, Rackauskas M, et al. (2006). "Properties of mouse connexin 30.2 and human connexin 31.9 hemichannels: implications for atrioventricular conduction in the heart". Proc. Natl. Acad. Sci. U.S.A. 103 (25): 9726–31. Bibcode:2006PNAS..103.9726B. doi:10.1073/pnas.0603372103. PMC 1480474. PMID 16772377.
• Söhl G, Nielsen PA, Eiberger J, Willecke K (2003). "Expression profiles of the novel human connexin genes hCx30.2, hCx40.1, and hCx62 differ from their putative mouse orthologues". Cell Commun. Adhes. 10 (1): 27–36. doi:10.1080/15419060302063. PMID 12881038. S2CID 225894.
• Kreuzberg MM, Liebermann M, Segschneider S, et al. (2009). "Human connexin31.9, unlike its orthologous protein connexin30.2 in the mouse, is not detectable in the human cardiac conduction system". J. Mol. Cell. Cardiol. 46 (4): 553–9. doi:10.1016/j.yjmcc.2008.12.007. PMID 19168070.
• Unsworth HC, Aasen T, McElwaine S, Kelsell DP (2007). "Tissue-specific effects of wild-type and mutant connexin 31: a role in neurite outgrowth". Hum. Mol. Genet. 16 (2): 165–72. doi:10.1093/hmg/ddl452. PMID 17142249.
• Nielsen PA, Beahm DL, Giepmans BN, et al. (2002). "Molecular cloning, functional expression, and tissue distribution of a novel human gap junction-forming protein, connexin-31.9. Interaction with zona occludens protein-1". J. Biol. Chem. 277 (41): 38272–83. doi:10.1074/jbc.M205348200. PMID 12154091.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.